Human Gene PPFIA1 (ENST00000253925.12_5) from GENCODE V47lift37
  Description: PTPRF interacting protein alpha 1, transcript variant 2 (from RefSeq NM_003626.5)
Gencode Transcript: ENST00000253925.12_5
Gencode Gene: ENSG00000131626.19_19
Transcript (Including UTRs)
   Position: hg19 chr11:70,116,796-70,230,502 Size: 113,707 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr11:70,118,279-70,228,252 Size: 109,974 Coding Exon Count: 26 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:70,116,796-70,230,502)mRNA (may differ from genome)Protein (1202 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LIPA1_HUMAN
DESCRIPTION: RecName: Full=Liprin-alpha-1; AltName: Full=LAR-interacting protein 1; Short=LIP-1; AltName: Full=Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1; Short=PTPRF-interacting protein alpha-1;
FUNCTION: May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates.
SUBUNIT: Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Interacts with GIT1, KIF1A and GRIP1 (By similarity).
INTERACTION: Q9NS73:MBIP; NbExp=3; IntAct=EBI-745426, EBI-741953; Q14738:PPP2R5D; NbExp=2; IntAct=EBI-745426, EBI-396563;
SUBCELLULAR LOCATION: Cytoplasm. Note=Colocalizes with PTPRF at the ends of focal adhesions most proximal to the cell nucleus.
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the liprin family. Liprin-alpha subfamily.
SIMILARITY: Contains 3 SAM (sterile alpha motif) domains.
SEQUENCE CAUTION: Sequence=BAA08353.1; Type=Frameshift; Positions=1033, 1041, 1045, 1067, 1113;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PPFIA1
Diseases sorted by gene-association score: acrofacial dysostosis 1, nager type (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.76 RPKM in Testis
Total median expression: 367.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -140.40225-0.624 Picture PostScript Text
3' UTR -355.101406-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR011510 - SAM_2
IPR021129 - SAM_type1

Pfam Domains:
PF00536 - SAM domain (Sterile alpha motif)
PF07647 - SAM domain (Sterile alpha motif)

SCOP Domains:
140500 - BAS1536-like
47769 - SAM/Pointed domain
57997 - Tropomyosin
58104 - Methyl-accepting chemotaxis protein (MCP) signaling domain

ModBase Predicted Comparative 3D Structure on Q13136
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0005515 protein binding

Biological Process:
GO:0007160 cell-matrix adhesion
GO:0007165 signal transduction
GO:0051497 negative regulation of stress fiber assembly
GO:1903077 negative regulation of protein localization to plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0048786 presynaptic active zone


-  Descriptions from all associated GenBank mRNAs
  U22815 - Human LAR-interacting protein 1a mRNA, complete cds.
U22816 - Human LAR-interacting protein 1b mRNA, complete cds.
BC034046 - Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1, mRNA (cDNA clone MGC:26800 IMAGE:4794300), complete cds.
AB209314 - Homo sapiens mRNA for PTPRF interacting protein alpha 1 isoform b variant protein.
CU689824 - Synthetic construct Homo sapiens gateway clone IMAGE:100020571 5' read PPFIA1 mRNA.
AB590441 - Synthetic construct DNA, clone: pFN21AE1318, Homo sapiens PPFIA1 gene for protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1, without stop codon, in Flexi system.
DQ892401 - Synthetic construct clone IMAGE:100005031; FLH186002.01X; RZPDo839H09148D protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1) gene, encodes complete protein.
KJ897854 - Synthetic construct Homo sapiens clone ccsbBroadEn_07248 PPFIA1 gene, encodes complete protein.
JD150511 - Sequence 131535 from Patent EP1572962.
BX648037 - Homo sapiens mRNA; cDNA DKFZp686L12262 (from clone DKFZp686L12262).
D49354 - Homo sapiens mRNA for enhancer protein in hsp70 gene, partial cds.
AK124621 - Homo sapiens cDNA FLJ42630 fis, clone BRACE3019084, highly similar to Liprin-alpha-1.
AK123331 - Homo sapiens cDNA FLJ41337 fis, clone BRAMY3000254, highly similar to Liprin-alpha-1.
JD250873 - Sequence 231897 from Patent EP1572962.
JD066119 - Sequence 47143 from Patent EP1572962.
JD436859 - Sequence 417883 from Patent EP1572962.
JD466865 - Sequence 447889 from Patent EP1572962.
JD259204 - Sequence 240228 from Patent EP1572962.
JD508322 - Sequence 489346 from Patent EP1572962.
JD392607 - Sequence 373631 from Patent EP1572962.
JD133397 - Sequence 114421 from Patent EP1572962.
JD419619 - Sequence 400643 from Patent EP1572962.
JD318783 - Sequence 299807 from Patent EP1572962.
JD530449 - Sequence 511473 from Patent EP1572962.
JD452716 - Sequence 433740 from Patent EP1572962.
JD536090 - Sequence 517114 from Patent EP1572962.
JD348526 - Sequence 329550 from Patent EP1572962.
JD310003 - Sequence 291027 from Patent EP1572962.
JD553638 - Sequence 534662 from Patent EP1572962.
JD535287 - Sequence 516311 from Patent EP1572962.
JD348693 - Sequence 329717 from Patent EP1572962.
JD314909 - Sequence 295933 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q13136 (Reactome details) participates in the following event(s):

R-HSA-210426 Glutamate synaptic vesicle docking and priming
R-HSA-372505 Acetylcholine synaptic vesicle docking and priming
R-HSA-374922 Noradrenalin synaptic vesicle docking and priming
R-HSA-380574 Dopamine synaptic vesicle docking and priming
R-HSA-380905 Serotonin loaded synaptic vesicle docking and priming
R-HSA-210430 release of L-Glutamate at the synapse
R-HSA-372529 Release of acetylcholine at the synapse
R-HSA-374899 Release of noradrenaline at the synapse
R-HSA-380869 Release of docked dopamine loaded synaptic vesicle
R-HSA-380901 Release of docked serotonin loaded synaptic vesicle
R-HSA-388824 PTPRF, PTPRS, PTPRD bind Liprins
R-HSA-210500 Glutamate Neurotransmitter Release Cycle
R-HSA-264642 Acetylcholine Neurotransmitter Release Cycle
R-HSA-181430 Norepinephrine Neurotransmitter Release Cycle
R-HSA-212676 Dopamine Neurotransmitter Release Cycle
R-HSA-181429 Serotonin Neurotransmitter Release Cycle
R-HSA-388844 Receptor-type tyrosine-protein phosphatases
R-HSA-112310 Neurotransmitter release cycle
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLE3, ENST00000253925.1, ENST00000253925.10, ENST00000253925.11, ENST00000253925.2, ENST00000253925.3, ENST00000253925.4, ENST00000253925.5, ENST00000253925.6, ENST00000253925.7, ENST00000253925.8, ENST00000253925.9, LIP1, LIPA1_HUMAN, NM_003626, Q13135, Q13136, Q14567, Q8N4I2, uc317fmr.1, uc317fmr.2
UCSC ID: ENST00000253925.12_5
RefSeq Accession: NM_003626.5
Protein: Q13136 (aka LIPA1_HUMAN or LPA1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.